Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216924 | SCV000270756 | likely benign | not specified | 2015-10-22 | criteria provided, single submitter | clinical testing | p.Pro878Pro in exon 10 of PRDM16: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (64/64444) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs201338158). |
Gene |
RCV001528382 | SCV000530820 | likely benign | not provided | 2021-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000469880 | SCV000556979 | benign | Left ventricular noncompaction 8 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001528382 | SCV002820990 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PRDM16: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000216924 | SCV003928550 | benign | not specified | 2023-04-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243018 | SCV003950345 | likely benign | Inborn genetic diseases | 2023-05-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003929898 | SCV004747011 | likely benign | PRDM16-related condition | 2019-05-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Diagnostic Laboratory, |
RCV001528382 | SCV001740051 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000216924 | SCV001920036 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000216924 | SCV001956300 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528382 | SCV001967949 | likely benign | not provided | no assertion criteria provided | clinical testing |